Variant report

Variant	rs7944
Chromosome Location	chr9:94794302-94794303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11793157	1.00[CHD][hapmap]
rs1358499	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1358500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1954599	1.00[CEU][hapmap]
rs2001676	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3920441	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41279063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4559303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55740103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56160856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58525487	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7018784	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7021155	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7028311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7038822	1.00[CEU][hapmap]
rs7040090	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854213	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866376	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94779000-94794600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94781200-94794600	Weak transcription	Fetal Stomach	stomach
3	chr9:94782200-94794600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:94782400-94795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94785200-94795200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:94785400-94795200	Weak transcription	HMEC	breast
7	chr9:94786200-94794600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94787200-94794600	Weak transcription	Thymus	Thymus
9	chr9:94787200-94794600	Weak transcription	HSMMtube	muscle
10	chr9:94787400-94795000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:94788400-94794600	Weak transcription	Fetal Intestine Small	intestine
12	chr9:94788400-94795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:94788800-94794600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:94788800-94794600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:94788800-94795400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:94789000-94794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:94789000-94794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:94789000-94795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:94789200-94794600	Weak transcription	Primary T cells from cord blood	blood
20	chr9:94789200-94794600	Weak transcription	Esophagus	oesophagus
21	chr9:94789200-94794600	Weak transcription	Spleen	Spleen
22	chr9:94789400-94794600	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:94789800-94794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:94790000-94794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:94790000-94796400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:94790200-94794600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:94790400-94794600	Weak transcription	Aorta	Aorta
28	chr9:94790400-94794600	Weak transcription	Ovary	ovary
29	chr9:94790800-94794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:94790800-94794600	Weak transcription	NH-A	brain
31	chr9:94790800-94795200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr9:94791000-94794400	Weak transcription	NHLF	lung
33	chr9:94791000-94794600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:94791000-94794600	Weak transcription	Left Ventricle	heart
35	chr9:94791000-94795400	Weak transcription	A549	lung
36	chr9:94791000-94795800	Weak transcription	Colonic Mucosa	Colon
37	chr9:94791200-94794400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr9:94791200-94794600	Weak transcription	Right Ventricle	heart
39	chr9:94791200-94795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:94791400-94794600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:94791400-94797400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:94791400-94797800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
45	chr9:94791800-94794600	Weak transcription	Fetal Intestine Large	intestine
46	chr9:94791800-94797800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:94791800-94798600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr9:94792200-94795200	Weak transcription	Brain Angular Gyrus	brain
49	chr9:94792200-94795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:94792200-94795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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